Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a c...
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction
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Author / Creator
Thormaehlen, Aenne S , Schuberth, Christian , Won, Hong-Hee , Blattmann, Peter , Joggerst-Thomalla, Brigitte , Theiss, Susanne , Asselta, Rosanna , Duga, Stefano , Merlini, Pier Angelica , Ardissino, Diego , Lander, Eric S , Gabriel, Stacey , Rader, Daniel J , Peloso, Gina M , Pepperkok, Rainer , Kathiresan, Sekar and Runz, Heiko
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
A fundamental challenge to contemporary genetics is to distinguish rare missense alleles that disrupt protein functions from the majority of alleles neutral on protein activities. High-throughput experimental tools to securely discriminate between disruptive and non-disruptive missense alleles are currently missing. Here we establish a scalable cel...
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Full title
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction
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TN_cdi_plos_journals_1685139181
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1685139181
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ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1004855
